It appears that the BBS-phenotype in the SS is a single-gene recessive disorder caused by the exonic BBS2 c.1222G>C SNV, however, to exclude the involvement of intronic variants as potential oligogenic contributors, such as triallelic or modifier mutations, targeted sequencing of all BBS genes across numerous c.1222G>C homozygotes and non-affected SS controls, or functional cDNA or RNA analysis on tissue from an affected dog would be required. This evidence concerns the gene BBS2 and Bardet-Biedl syndrome.